SLC17A1, solute carrier family 17 member 1, 6568

N. diseases: 23; N. variants: 164
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.010 Biomarker disease BEFREE Thus, genetic variants of SLC17A1 are potential biomarkers for altered cholesterol homeostasis and hyperhomocysteinaemia in Japanese men. 26524967 2015
CUI: C0149896
Disease: Primary gout
Primary gout
0.010 GeneticVariation disease BEFREE Three reabsorption SNP (SLC22A12/URAT1, SLC2A9/GLUT9, and SLC22A11/OAT4) and 2 secretion transporter SNP (SLC17A1/NPT1 and ABCG2/BRCP) were studied in 104 patients with primary gout and in 300 control subjects. 25128519 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Rebmab200, a humanized monoclonal antibody targeting the sodium phosphate transporter NaPi2b displays strong immune mediated cytotoxicity against cancer: a novel reagent for targeted antibody therapy of cancer. 23936189 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Rebmab200, a humanized monoclonal antibody targeting the sodium phosphate transporter NaPi2b displays strong immune mediated cytotoxicity against cancer: a novel reagent for targeted antibody therapy of cancer. 23936189 2013
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2
0.010 GeneticVariation disease BEFREE ICSNPathway analysis identified 14 candidate causal SNPs, five genes, and two candidate causal pathways, which provided two hypothetical biologic mechanisms: (1) rs2728121 (regulatory region) to polycystic kidney disease 2 (PKD2) to ion transmembrane transporter activity; (2) rs942377, rs3799346, rs3799344, rs2762353, rs13197601, rs3757131, rs1165215, rs1165196 to SLC17A1 to ion transmembrane transporter activity and secondary active transmembrane transporter activity. 22609445 2012
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
0.010 Biomarker disease BEFREE Besides the novel MHC class 1-like HH candidate gene HLA-H, we identified a family of five butyrophilin-related sequences, two genes with structural similarity to a type 1 sodium phosphate transporter, 12 novel histone genes, and a gene we named RoRet based on its strong similarity to the 52-kD Ro/SSA lupus and Sjogren's syndrome auto-antigen and the RET finger protein. 9149941 1997
Hypophosphatemic Rickets, X-Linked Dominant
0.010 Biomarker disease BEFREE Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia. 8047391 1994
Vitamin D-Resistant Rickets, X-Linked
0.010 Biomarker disease BEFREE Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia. 8047391 1994
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic
0.010 Biomarker disease BEFREE Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia. 8047391 1994
CUI: C0018099
Disease: Gout
Gout
0.100 GeneticVariation disease GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. 30993211 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0018099
Disease: Gout
Gout
0.100 GeneticVariation disease GWASCAT GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes. 27899376 2017
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Modulation of genetic associations with serum urate levels by body-mass-index in humans. 25811787 2015
CUI: C0018099
Disease: Gout
Gout
0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.100 GeneticVariation phenotype GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
Corpuscular Hemoglobin Concentration Mean
0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0018099
Disease: Gout
Gout
0.100 GeneticVariation disease GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215 2011
CUI: C0337439
Disease: Iron measurement
Iron measurement
0.100 GeneticVariation phenotype GWASDB Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. 21208937 2011
CUI: C0373607
Disease: Ferritin measurement
Ferritin measurement
0.100 GeneticVariation phenotype GWASCAT Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. 21149283 2011